gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00444878 (SAS)
Genomes Max Group AF
0.00361012 (SAS)
Exomes Max Group AF
0.00441776 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201626120G>C , CM000664.2:g.201626120G>C | GRCh38 |
| NC_000002.11:g.202490843G>C , CM000664.1:g.202490843G>C | GRCh37 |
| NC_000002.10:g.202199088G>C | NCBI36 |
| NG_032049.1:g.22410C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.861C>G | ||
| ENST00000621467.5:c.939C>G | ENSP00000480508.2:p.Leu313= | |
| ENST00000686475.1:n.1005C>G | ||
| ENST00000409883.7:c.1065C>G MANE Select | ENSP00000386264.2:p.Leu355= | |
| ENST00000286196.9:c.*629C>G | ENSP00000286196.5:n.*629C>G | |
| ENST00000409444.6:c.1041C>G | ENSP00000387203.2:p.Leu347= | |
| ENST00000409883.6:c.1065C>G | ENSP00000386264.2:p.Leu355= | |
| ENST00000471318.5:n.293C>G | ||
| ENST00000495329.1:n.204C>G | ||
| ENST00000621467.4:c.1041C>G | ENSP00000480508.1:p.Leu347= | |
| NM_001044385.2:c.1065C>G | NP_001037850.1:p.Leu355= | |
| NM_152388.3:c.1041C>G | NP_689601.2:p.Leu347= | |
| NM_001044385.3:c.1065C>G MANE Select | NP_001037850.1:p.Leu355= | |
| NM_152388.4:c.1041C>G | NP_689601.2:p.Leu347= |